FAIR FOR RARE: Austin’s Story

On July 6th, 2017 we received one of the most exciting calls of the last 13 years from our genetics team asking us to make an appointment for the following Monday morning as they needed to share with us the results of our sons exome sequencing. Finally, they had an answer for our son’s developmental delay. We had been through countless tests over a period of 13 years, always searching for answers.

When we met with the team the following Monday, I was nervous of what the future may now hold for our son Austin. At the same time my husband and I were mostly excited to hear what the team had to share with us. On so many other occasions the answer was always “We still don’t know and maybe in a few more years we may have an answer”.

The exome sequencing, which is a technique used to sequence all of the protein-coding genes in a genome, revealed that Austin had a de novo mutation on chromosome 21 that was linked to a condition, known as DYRK1A Syndrome. Austin was one of only two children in Australia identified with DYRK1A Syndrome, and one of fewer than 150 people worldwide. The diagnosis for us was immediately empowering. We started to learn more about DYRK1A Syndrome and were also able to connect quickly with the global community via Facebook. For the first time, we were able to connect with other families living with this rare disease, just seeing the facial similarities was amazing.

Austin had missed most of his early milestones and when he was around eight months old we were told he had a global development delay, so testing and early intervention classes began. Austin had limited verbal language when he started school and we learnt to sign and utilise PECS (Picture Education Communication System) to help us communicate. We learnt to celebrate the very small successes, as big achievements! I remember being told that "Austin will tell us what Austin is capable of!" following one of the many non-diagnosis appointments.

The question was, with a diagnosis would anything now change? What should we expect? Was there a treatment? When we listened, and read about the common features including intellectual disability (ID), Autism Spectrum Disorder (ASD), microcephaly (small head), anxiety, febrile convulsions, epilepsy, prominent ears, deeply set eyes, speech delay and feeding difficulties. It was like a ticked box for many things Austin had experienced but we had never had an answer as to why.

While currently there is no specific treatment, with a diagnosis comes better understanding and with a group of identified patient’s treatment options become more likely via increased understanding from the medical and scientific community of what may be possible. It's been estimated that potentially 0.1% of the population with ASD are likely to have DYRK1A Syndrome; therefore, in Australia with 164,000 people estimated to be living with ASD there may be approximately 164 people with DYRK1A Syndrome. Yet currently only two people in Australia have been identified. Via the DYRK1A family & friends Facebook page we quickly became a part of a global community that helped us feel less isolated. There were many other rare disease families in the world who understood exactly how we felt having a family member with DYRK1A Syndrome.

While Austin may not officially be a SWAN (Syndromes Without A Name) we continued our search for an answer encouraged by the work of SWAN Australia and Rare Voices Australia. These organisations continue to advocate for people living with rare diseases, so that we might have better access to timely diagnosis and with it earlier access to interventions and treatments. Helping people with rare diseases and their families live a more fulfilled life. We would also like to thank our incredible genetics team for providing us with the opportunity to find an answer! We hope by sharing our story others may be encouraged to keep searching for a diagnosis, as we now understand how empowering this can be. We ask the scientific community to continue the quest to search for greater understanding and potentially treatments for the rare community into the future!

You can make a difference Donate to Rare Voices Australia

About Rare Voices Australia

Rare Voices Australia (RVA) is a national, not-for-profit organisation established in 2012 with a vision to be ‘the unified voice for ALL Australians living with a rare disease’.
RVA is Australia’s national alliance advocating for those who live with a rare disease.
RVA provides a strong common voice to promote health policy and a healthcare system that works for those with rare diseases.